Canonical Allele Identifier: CA2648226318

Gene: EFNA1

Linked Data

• gnomAD v4: 1-155133611-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155133611G>T , CM000663.2:g.155133611G>T	GRCh38
NC_000001.10:g.155106087G>T , CM000663.1:g.155106087G>T	GRCh37
NC_000001.9:g.153372711G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368407.8:c.454+43G>T MANE Select	ENSP00000357392.3:n.454+43G>T
ENST00000368406.2:c.389-119G>T	ENSP00000357391.2:n.389-119G>T
ENST00000368407.7:c.454+43G>T	ENSP00000357392.3:n.454+43G>T
ENST00000469878.5:n.587G>T
ENST00000474413.5:n.679+43G>T
ENST00000497282.1:n.497+43G>T
NM_004428.2:c.454+43G>T	NP_004419.2:n.454+43G>T
NM_182685.1:c.389-119G>T	NP_872626.1:n.389-119G>T
XM_005244940.3:c.265+43G>T	XP_005244997.1:n.265+43G>T
NM_004428.3:c.454+43G>T MANE Select	NP_004419.2:n.454+43G>T
NM_182685.2:c.389-119G>T	NP_872626.1:n.389-119G>T